C. Eggermann: search on Z-Library

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1

Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty

Stefan Aretz, Ruth Raff, Joachim Woelfle, Klaus Zerres, Marianne Esser, Peter Propping, Thomas Eggermann

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 83 KB

english, 2005

2

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Fabian Küpper, Frank Schneider, Christian Dornia, Ellen Windelen, Thomas Eggermann, Sabine Rudnik-Schöneborn, Jutta Kirfel, Laszlo Furu, Luiz F. Onuchic, Sandro Rossett

Journal:

Year:

2004

Language:

english

File:

PDF, 277 KB

english, 2004

3

Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome

Thomas Eggermann, Katja Eggermann, Nadine Schönherr

Journal:

Trends in Genetics

Year:

2008

Language:

english

File:

PDF, 750 KB

english, 2008

4

Mutation analysis of the growth factor genes PlGF, Flt1, IGF-I , and IGF-IR in intrauterine growth restriction with abnormal placental blood flow

Muetze, Sabine, Kapagerof, Athina, Vlachopoulos, Lazaros, Eggermann, Thomas, Kaufmann, Peter, Zerres, Klaus, Rath, Werner, Rudnik-Schoeneborn, Sabine

Journal:

Journal of Maternal-Fetal and Neonatal Medicine

Year:

2010

Language:

english

File:

PDF, 305 KB

english, 2010

5

Gene Dosage Analysis in Silver-Russell Syndrome: Use of Quantitative Competitive PCR and Dual-Color FISH to Estimate the Frequency of Duplications in 7p11.2–p13

Mergenthaler, Susanne, Sharp, Andrew, Ranke, Michael B., Kalscheuer, Vera M., Wollmann, Hartmut A., Eggermann, Thomas

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 245 KB

english, 2001

6

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

Monk, David, Mackay, Deborah J. G., Eggermann, Thomas, Maher, Eamonn R., Riccio, Andrea

Journal:

Nature Reviews Genetics

Year:

2019

Language:

english

File:

PDF, 1.94 MB

english, 2019

7

Report of two new cases of Pallister-Killian syndrome confirmed by FISH: Tissue-specific mosaicism and loss of i(12p) by in vitro selection

Schubert, Regine, Viersbach, Renate, Eggermann, Thomas, Hansmann, Manfred, Schwanitz, Gesa

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 102 KB

english, 1997

8

Novel silent variant (c1722G>A) in the coding region of the insulin receptor substrate 1 (IRS1) gene

Patrick Kloos, Susanne Mergenthaler, Michael B. Ranke, Hartmut A. Wollmann, Thomas Eggermann

Journal:

Year:

2000

Language:

english

File:

PDF, 10 KB

english, 2000

9

Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15)

Thomas Eggermann, Sabrina Spengler, Nadine Bachmann, Michael Baudis, Ulrike A. Mau-Holzmann, Sylke Singer, Eva Rossier

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 143 KB

english, 2010

10

Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation

Matthias Begemann, Sabrina Spengler, Ulrike Kordaß, Carmen Schröder, Thomas Eggermann

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 637 KB

english, 2012

11

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Frank Schneider, Christian Dornia, Fabian Küpper, Thomas Eggermann, Sabine Rudnik-Schöneborn, Jutta Kirfel, Markus Moser, Reinhard Büttner, Klaus Zerres

Journal:

Year:

2004

Language:

english

File:

PDF, 163 KB

english, 2004

12

A rapid microarray based whole genome analysis for detection of uniparental disomy

Özge Altug-Teber, Andreas Dufke, Sven Poths, Ulrike Angelika Mau-Holzmann, Murat Bastepe, Laurence Colleaux, Valérie Cormier-Daire, Thomas Eggermann, Gabriele Gillessen-Kaesbach, Michael Bonin, Olaf R

Journal:

Year:

2005

Language:

english

File:

PDF, 282 KB

english, 2005

13

Maternale uniparentale Disomie 14 Ein weiteres Imprintingsyndrom

T. Eggermann, H. A. Wollmann, K. Zerres

Journal:

Monatsschrift Kinderheilkunde

Year:

2002

Language:

german

File:

PDF, 279 KB

german, 2002

14

Silver-Russell-Kleinwuchs

T. Eggermann, S. Spengler, M. Begemann, G. Binder

Journal:

Monatsschrift Kinderheilkunde

Year:

2011

Language:

german

File:

PDF, 518 KB

german, 2011

15

Zystennieren – eine Übersicht

N. Ortiz Brüchle, A. Venghaus, J. von Bothmer, S. Rudnik-Schöneborn, T. Eggermann, C. Bergmann, K. Zerres

Journal:

medizinische genetik

Year:

2010

Language:

german

File:

PDF, 667 KB

german, 2010

16

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

K Zerres, J Senderek, S Rudnik-Schöneborn, T Eggermann, J Kunze, T Mononen, H Kääriäinen, J Kirfel, M Moser, R Buettner, C Bergmann

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 703 KB

english, 2004

17

(Epi)mutations in 11p15 significantly contribute to Silver–Russell syndrome: but are they generally involved in growth retardation?

N. Schönherr, E. Meyer, K. Eggermann, M.B. Ranke, H.A. Wollmann, T. Eggermann

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 176 KB

english, 2006

18

Daily and seasonal variation in wolf activity in the Bieszczady Mountains, SE Poland

Julia Eggermann, Roman Gula, Bartosz Pirga, Jörn Theuerkauf, Hiroshi Tsunoda, Barbara Brzezowska, Sophie Rouys, Stephan Radler

Journal:

Mammalian Biology - Zeitschrift für Säugetierkunde

Year:

2009

Language:

english

File:

PDF, 407 KB

english, 2009

19

Silver-Russell syndrome: genetic basis and molecular genetic testing

Thomas Eggermann, Matthias Begemann, Gerhard Binder, Sabrina Spengler

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 375 KB

english, 2010

20

Cystinuria: an inborn cause of urolithiasis

Thomas Eggermann, Andreas Venghaus, Klaus Zerres

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 381 KB

english, 2012

21

Einsatz der molekularen Karyotypisierung in der Pädiatrie

S. Spengler, M. Begemann, K. Eggermann, K. Zerres…

Journal:

Monatsschrift Kinderheilkunde

Year:

2013

Language:

german

File:

PDF, 1.11 MB

german, 2013

22

Genetik und Epigenetik

Prof. Dr. K. Zerres,T. Eggermann

Journal:

Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz

Year:

2014

Language:

german

File:

PDF, 945 KB

german, 2014

23

Stress-Hormone Levels of Wolves in Relation to Breeding Season, Pack Size, Human Activity, and Prey Density

Eggermann, Julia, Theuerkauf, Jörn, Pirga, Bartosz, Milanowski, Artur, Gula, Roman

Journal:

Annales Zoologici Fennici

Year:

2013

Language:

english

File:

PDF, 145 KB

english, 2013

24

Are H19 Variants Associated with Silver-Russell Syndrome?

Schönherr, N., Binder, G., Korsch, E., Kämmerer, E., Wollmann, H.A., Eggermann, Τ.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2008

Language:

english

File:

PDF, 2.03 MB

english, 2008

25

Broad Clinical Spectrum in Silver-Russell Syndrome and Consequences for Genetic Testing in Growth Retardation

Eggermann, T., Gonzalez, D., Spengler, S., Arslan-Kirchner, M., Binder, G., Schonherr, N.

Journal:

Year:

2009

Language:

english

File:

PDF, 345 KB

english, 2009

26

Genomic and Functional Investigations of Mutations of the SLC3A1 Gene in Cystinuria

Lahme, Sven, Bichler, Karl-Horst, Eggermann, Thomas, Lang, Florian

Journal:

Urologia Internationalis

Year:

2002

Language:

english

File:

PDF, 72 KB

english, 2002

27

Cystinuria in a Girl Presenting with a Hyperechogenic Colon Detected by Prenatal Ultrasonography and a New SLC3A1 Gene Mutation (p.Phe278Ser)

Buxmann, H., Eggermann, T., Lorenz, D., Sewell, A., Böhles, H., Schlößer, R., Merz, E.

Journal:

Ultraschall in der Medizin / European Journal of Ultrasound

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

28

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

Eggermann, Thomas, Elbracht, Miriam, Kurth, Ingo, Juul, Anders, Johannsen, Trine Holm, Netchine, IrÃ¨ne, Mastorakos, George, Johannsson, Gudmundur, Musholt, Thomas J., Zenker, Martin, Prawitt, Dirk, P

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 741 KB

2020

29

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

Mantovani, Giovanna, Bastepe, Murat, Monk, David, deÂ Sanctis, Luisa, Thiele, Susanne, Ahmed, S.Â Faisal, Bufo, Roberto, Choplin, TimothÃ©e, DeÂ Filippo, Gianpaolo, Devernois, Guillemette, Eggermann,

Journal:

Hormone Research in Paediatrics

Year:

2020

File:

PDF, 560 KB

2020

30

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

Eggermann, Thomas, Kadgien, Gundula, Begemann, Matthias, Elbracht, Miriam

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 1019 KB

2020

31

New case of mosaic tetrasomy 9p with additional neurometabolic findings

Eggermann, Thomas, Rossier, Eva, Theurer-Mainka, Ute, Backsch, Claudia, Klein-Vogler, Ute, Enders, Herbert, Kaiser, Peter

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 171 KB

english, 1998

32

Mosaic rearrangement of chromosome 18: Characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin

Oner, Guner, Jauch, Anna, Eggermann, Thomas, Hardwick, R., Kirsch, Stefan, Schiebel, Katrin, Rappold, Gudrun, Robson, Lisa, Smith, Arabella

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 946 KB

english, 2000

33

Rare case of de novo interstitial deletion 2q13q21: Clinical, cytogenetic, and molecular studies

Eggermann, Katja, Dufke, Andreas, Enders, Herbert, Kaiser, Peter, St�tter, Mechthild, Eggerman, Thomas

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 49 KB

english, 2000

34

Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the γ2-COP (COPG2) gene by screening of Silver-Russell syndrome patients

S. Mergenthaler, N. Blagitko-Dorfs, H.A. Wollmann, M.B. Ranke, H.H. Ropers, V.M. Kalscheuer, T. Eggermann

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

35

Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: Clinical report and review of the literature

Regine Schubert, Thomas Eggermann, Cornelia Hofstaetter, Barbara von Netzer, Gisela Knöpfle, Gesa Schwanitz

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 57 KB

english, 2002

36

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene

Luiz F. Onuchic, Michal Mrug, Xiaoying Hou, Thomas Eggermann, Carsten Bergmann, Klaus Zerres, Ellis D. Avner, Laszlo Furu, Stefan Somlo, Yasuyuki Nagasawa, Gregory G. Germino, Lisa M. Guay-Woodford

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 182 KB

english, 2002

37

Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature

Katja Eggermann, Carsten Bergmann, Inge Heil, Thomas Eggermann, Klaus Zerres, Herdit M. Schüler

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 83 KB

english, 2005

38

Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q

Thomas Eggermann, Ulrike Gamerdinger, Kristin Bosse, Christiane Heidrich-Kaul, Ruth Raff, Esther Meyer, Ingeborg Heil, Herdit Schüler, Eckhard Korsch, Gesa Schwanitz

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 186 KB

english, 2005

39

Rare interstitial deletion 9q31.2 to q33.1 de novo: Longitudinal study in a patient over a period of more than 20 years

Ulrike Gamerdinger, Thomas Eggermann, Regine Schubert, Gesa Schwanitz, Martina Kreiß-Nachtsheim

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 355 KB

english, 2008

40

Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: Determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q

A. Roos, T. Eggermann, K. Zerres, H.M. Schüler

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 101 KB

english, 2008

41

A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant

Andreas Roos, Miriam Elbracht, Michael Baudis, Jan Senderek, Nadine Schönherr, Thomas Eggermann, Herdit M. Schüler

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 143 KB

english, 2008

42

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

Hartmut Engels, Thomas Eggermann, Almut Caliebe, Anna Jelska, Regine Schubert, Herdit M. Schüler, Barbara Panasiuk, Jacek Zaremba, Anna Latos-Bieleńska, Lucjusz Jakubowski, Klaus P. Zerres, Gesa Schwa

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 78 KB

english, 2008

43

Identification of a 21q22 duplication in a Silver–Russell syndrome patient further narrows down the Down syndrome critical region

Thomas Eggermann, Nadine Schönherr, Sabrina Spengler, Susanne Jäger, Bernd Denecke, Gerhard Binder, Michael Baudis

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 129 KB

english, 2010

44

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

Sabine Rudnik-Schöneborn, Tsutomu Takahashi, Sabine Busse, Thorsten Schmidt, Jan Senderek, Thomas Eggermann, Klaus Zerres

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 203 KB

english, 2010

45

Russell–Silver syndrome

Thomas Eggermann

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2010

Language:

english

File:

PDF, 392 KB

english, 2010

46

Genetic variation in the schizophrenia-risk gene neuregulin 1 correlates with brain activation and impaired speech production in a verbal fluency task in healthy individuals

Tilo Kircher, Axel Krug, Valentin Markov, Carin Whitney, Sören Krach, Klaus Zerres, Thomas Eggermann, Tony Stöcker, Nadim Jon Shah, Jens Treutlein, Markus M. Nöthen, Tim Becker, Marcella Rietschel

Journal:

Human Brain Mapping

Year:

2009

Language:

english

File:

PDF, 257 KB

english, 2009

47

The impact of dystrobrevin-binding protein 1 (DTNBP1) on neural correlates of episodic memory encoding and retrieval

Markus Thimm, Axel Krug, Valentin Markov, Sören Krach, Andreas Jansen, Klaus Zerres, Thomas Eggermann, Tony Stöcker, Nadim Jon Shah, Markus M. Nöthen, Marcella Rietschel, Tilo Kircher

Journal:

Human Brain Mapping

Year:

2010

Language:

english

File:

PDF, 148 KB

english, 2010

48

Impact of schizophrenia-risk gene dysbindin 1 on brain activation in bilateral middle frontal gyrus during a working memory task in healthy individuals

Valentin Markov, Axel Krug, Sören Krach, Andreas Jansen, Thomas Eggermann, Karl Zerres, Tony Stöcker, N. Jon Shah, Markus M. Nöthen, Jens Treutlein, Marcella Rietschel, Tilo Kircher

Journal:

Human Brain Mapping

Year:

2010

Language:

english

File:

PDF, 208 KB

english, 2010

49

Genetic variation in G72 correlates with brain activation in the right middle temporal gyrus in a verbal fluency task in healthy individuals

Axel Krug, Valentin Markov, Sören Krach, Andreas Jansen, Klaus Zerres, Thomas Eggermann, Tony Stöcker, N Jon Shah, Markus M Nöthen, Alexander Georgi, Jana Strohmaier, Marcella Rietschel, Tilo Kircher

Journal:

Human Brain Mapping

Year:

2011

Language:

english

File:

PDF, 154 KB

english, 2011

50

Determination of SMN1 and SMN2 copy number using TaqMan™ technology

Dirk Anhuf, Thomas Eggermann, Sabine Rudnik-Schöneborn, Klaus Zerres

Journal:

Year:

2003

Language:

english

File:

PDF, 112 KB

english, 2003

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